Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225285
rs863225285
ALK
5 0.851 0.080 2 29209789 missense variant T/G snv 0.020 1.000 2 2017 2018
dbSNP: rs12587
rs12587
KRAS
5 0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs4712653
rs4712653
CASC15
3 0.882 0.080 6 22125735 intron variant T/C;G snv 0.030 1.000 3 2016 2017
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2005 2007
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs653765
rs653765
ADAM10
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs765771575
rs765771575
MET
3 0.882 0.080 7 116782017 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs79977247
rs79977247
TTR
9 0.776 0.200 18 31592975 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.020 1.000 2 2016 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 2000 2001
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs11037575
rs11037575
HSD17B12
4 0.882 0.080 11 43706780 intron variant T/C snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs110420
rs110420
LMO1 ; LOC105376536
3 0.882 0.080 11 8231502 intron variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1415224147
rs1415224147
MAPKAP1
3 0.882 0.080 9 125585715 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1442511697
rs1442511697
ADRA2B
3 0.882 0.080 2 96115494 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008